Just wanted to stop by for a quick update regarding recent developments with Sawyer's genetic results. But first, she is doing SO well. We are in a walk, fall, crawl phase where she still finds crawling to be way more fast and efficient, but does her fair share of walking. She is crazy and gets into everything. Her new favorite word is "No" with a head shake and likes to give high fives and kisses and help unload the dishwasher. And now for our results. :)
You may remember that back in September, Sawyer, Ryan, and I went to Texas Children's to have our blood drawn for a very thorough (and very costly) genetic test called the Whole Exome Sequencing Test. This was basically the big daddy of all genetic tests and essentially the end all for roads we could take with testing. They said to anticipate it taking up to 6 months to get the results, but less than 4 months later, they called with ours.
On Thursday, January 7, a genetic counselor called to let us know that Sawyer did in fact have a mutation on a particular gene which has been linked to a syndrome that would explain Sawyer's differences. Sawyer has a mutation on the PORCN gene. The mutation was random and not inherited from me or Ryan. They think this gene is responsible for the release of particular proteins that signal development during the early embryonic stage. We're talking 4-5 weeks gestation. Because of this mutation, the signals for proper development are disrupted causing certain things to develop incompletely. In Sawyer's case, her hands and feet, her right eye, her right kidney, her nails, and even her size. The syndrome that encompasses all of these differences is called Focal Dermal Hypoplasia (FDH) or also referred to as Goltz Syndrome.
From one source, "Focal dermal hypoplasia (FDH) is an uncommon genetic disorder characterized by distinctive skin abnormalities and a wide variety of defects that affect the eyes; teeth; and skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems." FDH was first named in 1962 by Dr Goltz but that actual gene link was not made until 2007. A quick google search will lead to you to the basics of the syndrome, some of the things which Sawyer portrays and others she does not. For the most basic review of the syndrome, read
here. Want to go a little more in depth? Read
here.
How are we feeling? That's a good question. My initial reaction after getting off the phone with the counselor was tears. But I couldn't tell you if they were happy tears, sad tears, tears of relief...I'm not even sure. I am
relieved that we have an answer.
Confused and nervous because this syndrome includes things that Sawyer doesn't have or has yet to show.
Bewildered that there are less than
300 cases reported. Worldwide. Ever. It's so uncommon and rare that there's not even a statistic for prevalence. We fondly referred to Sawyer as "one in a million" since we didn't have a clear diagnosis for so long, but one in 25 million---is this a joke?
But let me tell you just how AMAZING my husband is. Before I even set down the phone after saying goodbye to the counselor and he could see the sob forming in my chest, he grabbed my hand and said "This doesn't change anything. She's still Sawyer." Seriously, amazing. Definitely a keeper. God gave me a good one.
Now that I've had some time to process (and research), we're both at peace with it. Sawyer is so special and while we've joined another club that we never imagined would be in our cards, I feel like we'll be part of a unique and supportive community. I found a group on Facebook for those affected or for parents, relatives, and friends of those affected with FDH and they have already been a tremendous resource. I have found that some of their stories mirror ours and their comments echo my thoughts the past 14 months.
Does this change anything? Not really. As so many say, she is
not defined by a diagnosis. She is still our feisty, vivacious, toothy grinned girl whom we love and adore. This just makes us more aware of things we need to watch out for, such as heat intolerance, skin sensitivities and differences, early onset childhood osteoporosis, stunted growth, and teeth abnormalities. We now know that enamel defects are common in teeth, so being proactive and finding a dentist early on is wise, but we've pretty much already lined up our other specialists to address each of her issues. Also sounds like all of these kids remain below the third percentile in growth and I found one research study trying to link the gene to having effects on the pituitary gland which in turn causes poor growth.
February is a big month for us. We had the most appreciated and most needed reprieve from specialists from the end of October until now. Not that we don't love every specialist on our team, but we got to enjoy the holidays and not be concerned with appointments and tests, etc. The holidays were wonderful and I'm so thankful for that break. Now we're back to it. We'll meet with another geneticist to discuss Sawyer's results and so that he can make referrals for us, as well as meet with her hand surgeon and discuss when to schedule her next round of surgeries. Then back to our orthopedic specialist here in town and the ophthalmologist. We're not very excited.
I'll keep you all updated as we find out more information. I'd be lying if I didn't say I wasn't slightly disappointed that we will not be getting a syndrome named after us...I mean, how cute and non-invasive does "Sawyer Syndrome" sound? In all seriousness though, if you take away anything from this post, I think the very most important thing I hope you remember is...she's still Sawyer. And that's all that matters.
